Dalerba Piero, Sahoo Debashis, Paik Soonmyung, Guo Xiangqian, Yothers Greg, Song Nan, Wilcox-Fogel Nate, Forgó Erna, Rajendran Pradeep S, Miranda Stephen P, Hisamori Shigeo, Hutchison Jacqueline, Kalisky Tomer, Qian Dalong, Wolmark Norman, Fisher George A, van de Rijn Matt, Clarke Michael F
From the Herbert Irving Comprehensive Cancer Center and the Departments of Pathology and Cell Biology and Medicine, Columbia University, New York (P.D.); Institute for Stem Cell Biology and Regenerative Medicine (P.D., D.S., P.S.R., S.P.M., S.H., J.H., D.Q., M.F.C.) and the Departments of Pathology (X.G., E.F., M.R.), and Medicine, Division of Oncology (N.W.-F., G.A.F., M.F.C.), Stanford University, Stanford, and the Departments of Pediatrics and Computer Science and Engineering, University of California San Diego, San Diego (D.S.) - both in California; Faculty of Engineering, Bar-Ilan University, Ramat Gan, Israel (T.K.); the National Surgical Adjuvant Breast and Bowel Project, NRG Oncology (S.P., G.Y., N.S., N.W.) and the Allegheny Cancer Center at Allegheny General Hospital (N.W.) - both in Pittsburgh; Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, South Korea (S.P.); and the Department of Biochemistry and Molecular Biology, Medical School of Henan University, Kaifeng, China (X.G.).
N Engl J Med. 2016 Jan 21;374(3):211-22. doi: 10.1056/NEJMoa1506597.
Background The identification of high-risk stage II colon cancers is key to the selection of patients who require adjuvant treatment after surgery. Microarray-based multigene-expression signatures derived from stem cells and progenitor cells hold promise, but they are difficult to use in clinical practice. Methods We used a new bioinformatics approach to search for biomarkers of colon epithelial differentiation across gene-expression arrays and then ranked candidate genes according to the availability of clinical-grade diagnostic assays. With the use of subgroup analysis involving independent and retrospective cohorts of patients with stage II or stage III colon cancer, the top candidate gene was tested for its association with disease-free survival and a benefit from adjuvant chemotherapy. Results The transcription factor CDX2 ranked first in our screening test. A group of 87 of 2115 tumor samples (4.1%) lacked CDX2 expression. In the discovery data set, which included 466 patients, the rate of 5-year disease-free survival was lower among the 32 patients (6.9%) with CDX2-negative colon cancers than among the 434 (93.1%) with CDX2-positive colon cancers (hazard ratio for disease recurrence, 3.44; 95% confidence interval [CI], 1.60 to 7.38; P=0.002). In the validation data set, which included 314 patients, the rate of 5-year disease-free survival was lower among the 38 patients (12.1%) with CDX2 protein-negative colon cancers than among the 276 (87.9%) with CDX2 protein-positive colon cancers (hazard ratio, 2.42; 95% CI, 1.36 to 4.29; P=0.003). In both these groups, these findings were independent of the patient's age, sex, and tumor stage and grade. Among patients with stage II cancer, the difference in 5-year disease-free survival was significant both in the discovery data set (49% among 15 patients with CDX2-negative tumors vs. 87% among 191 patients with CDX2-positive tumors, P=0.003) and in the validation data set (51% among 15 patients with CDX2-negative tumors vs. 80% among 106 patients with CDX2-positive tumors, P=0.004). In a pooled database of all patient cohorts, the rate of 5-year disease-free survival was higher among 23 patients with stage II CDX2-negative tumors who were treated with adjuvant chemotherapy than among 25 who were not treated with adjuvant chemotherapy (91% vs. 56%, P=0.006). Conclusions Lack of CDX2 expression identified a subgroup of patients with high-risk stage II colon cancer who appeared to benefit from adjuvant chemotherapy. (Funded by the National Comprehensive Cancer Network, the National Institutes of Health, and others.).
背景 高危II期结肠癌的识别是选择术后需要辅助治疗患者的关键。基于微阵列的源自干细胞和祖细胞的多基因表达特征具有前景,但难以应用于临床实践。方法 我们采用一种新的生物信息学方法,通过基因表达阵列搜索结肠上皮分化的生物标志物,然后根据临床级诊断检测的可用性对候选基因进行排序。通过对II期或III期结肠癌患者的独立回顾性队列进行亚组分析,对排名最靠前的候选基因进行无病生存期关联以及辅助化疗获益情况的检测。结果 转录因子CDX2在我们的筛选测试中排名第一。2115个肿瘤样本中有87个(4.1%)缺乏CDX2表达。在包含466例患者的发现数据集中,32例(6.9%)CDX2阴性结肠癌患者的5年无病生存率低于434例(93.1%)CDX2阳性结肠癌患者(疾病复发风险比,3.44;95%置信区间[CI],1.60至7.38;P = 0.002)。在包含314例患者的验证数据集中,38例(12.1%)CDX2蛋白阴性结肠癌患者的5年无病生存率低于276例(87.9%)CDX2蛋白阳性结肠癌患者(风险比,2.42;95%CI,1.36至4.29;P = 0.003)。在这两组中,这些发现均与患者的年龄、性别以及肿瘤分期和分级无关。在II期癌症患者中,发现数据集(15例CDX2阴性肿瘤患者中5年无病生存率为49%,191例CDX2阳性肿瘤患者中为87%,P = 0.003)和验证数据集(15例CDX2阴性肿瘤患者中5年无病生存率为51%,106例CDX2阳性肿瘤患者中为80%,P = 0.004)中5年无病生存率的差异均有统计学意义。在所有患者队列的汇总数据库中,23例接受辅助化疗的II期CDX2阴性肿瘤患者的5年无病生存率高于25例未接受辅助化疗的患者(91%对56%,P = 0.006)。结论 CDX2表达缺失可识别出高危II期结肠癌患者亚组,这些患者似乎可从辅助化疗中获益。(由美国国立综合癌症网络、美国国立卫生研究院等资助。)